Transcript: ENST00000396252.2 NBN-002

Description

nibrin [Source:HGNC Symbol;Acc:7652]

Gene Synonyms

AT-V1, AT-V2, ATV, NBS, NBS1, P95

Location

Chromosome 8: 90,945,564-91,015,456 reverse strand.

About this transcript

This transcript has 19 exons, is annotated with 4 domains and features, is associated with 33196 variant alleles and maps to 773 oligo probes.

Gene

This transcript is a product of gene ENSG00000104320.9 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000265433.3	NBN-001	4666	754aa	ENSP00000265433.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6249	E5RGN7 E5RGR7 O60934	NM_002485.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000409330.1	NBN-003	4523	672aa	ENSP00000386924.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E5RGN7 E5RGR7 O60934	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000517772.1	NBN-011	701	164aa	ENSP00000428717.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E5RGN7 E5RGR7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000517337.1	NBN-013	565	92aa	ENSP00000429971.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E5RGN7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000519426.1	NBN-010	535	159aa	ENSP00000430983.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E5RGU1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000396252.2	NBN-002	4907	58aa	ENSP00000379551.2	Nonsense mediated decay		E2QRP0	-	-
ENST00000523444.1	NBN-009	593	58aa	ENSP00000428252.1	Nonsense mediated decay		E2QRP0	-	-
ENST00000494804.1	NBN-006	593	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000474821.1	NBN-008	503	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000520325.1	NBN-012	494	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 19, Coding exons: 3, Transcript length: 4,907 bps, Translation length: 58 residues

Version

ENST00000396252.2

Type

Nonsense mediated decay

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000331584 (version 2)

Favourite species

All species

Recent locations

Transcript: ENST00000396252.2 NBN-002

Summary